rs730880378
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs730880378(C;T) |
Make rs730880378(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 94490846 |
Gene | MRE11A |
is a | snp |
is | mentioned by |
dbSNP | rs730880378 |
dbSNP (classic) | rs730880378 |
ClinGen | rs730880378 |
ebi | rs730880378 |
HLI | rs730880378 |
Exac | rs730880378 |
Gnomad | rs730880378 |
Varsome | rs730880378 |
LitVar | rs730880378 |
Map | rs730880378 |
PheGenI | rs730880378 |
Biobank | rs730880378 |
1000 genomes | rs730880378 |
hgdp | rs730880378 |
ensembl | rs730880378 |
geneview | rs730880378 |
scholar | rs730880378 |
rs730880378 | |
pharmgkb | rs730880378 |
gwascentral | rs730880378 |
openSNP | rs730880378 |
23andMe | rs730880378 |
SNPshot | rs730880378 |
SNPdbe | rs730880378 |
MSV3d | rs730880378 |
GWAS Ctlg | rs730880378 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880378(T;T) |
Alt | rs730880378(T;T) |
Reference | Rs730880378(C;C) |
Significance | Pathogenic |
Disease | Ataxia-telangiectasia-like disorder 1 |
Variation | info |
Gene | MRE11A |
CLNDBN | Ataxia-telangiectasia-like disorder 1 |
Reversed | 1 |
HGVS | NC_000011.9:g.94224012G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000157663.4, |